Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India

被引：0

作者：

Sumita Danda

Sony Mohan

Prabavathi Devaraj

Atanu K. Dutta

Sheela Nampoothiri

Dhanya Yesodharan

Shubha R. Phadke

Anil B. Jalan

K. Thangaraj

Ishwar Chandra Verma

Debashish Danda

Isaac Jebaraj

机构：

[1] Christian Medical College and Hospital Vellore,Department of Medical Genetics

[2] Amrita Institute of Medical Sciences & Research Centre,Institute of Genetics and Genomics

[3] Sanjay Gandhi Postgraduate Institute of Medical Sciences,Department of Clinical Immunology & Rheumatology

[4] Navi Mumbai Institute of Research in Mental and Neurological Handicap Navi Mumbai,Department of Orthopedics

[5] Centre of Cellular and Molecular Biology,undefined

[6] Sir Ganga Ram Hospital,undefined

[7] Christian Medical College Vellore and Hospital,undefined

[8] Christian Medical College Vellore and Hospital,undefined

来源：

Clinical Rheumatology | 2020年 / 39卷

关键词：

Black bone disease; Genetics; India; Urine screening;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：2743 / 2749

页数：6

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[1] Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India
Danda, Sumita
Mohan, Sony
Devaraj, Prabavathi
Dutta, Atanu K.
Nampoothiri, Sheela
Yesodharan, Dhanya
Phadke, Shubha R.
Jalan, Anil B.
Thangaraj, K.
Verma, Ishwar Chandra
Danda, Debashish
Jebaraj, Isaac
[J]. CLINICAL RHEUMATOLOGY, 2020, 39 (09) : 2743 - 2749
[2] Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Zeinab S. Abdelkhalek
Iman G. Mahmoud
Heba Omair
Mohamed Abdulhay
Mohamed A. Elmonem
[J]. Scientific Reports, 13 (1)
[3] Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Abdelkhalek, Zeinab S.
Mahmoud, Iman G.
Omair, Heba
Abdulhay, Mohamed
Elmonem, Mohamed A.
[J]. SCIENTIFIC REPORTS, 2023, 13 (01):
[4] Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients
de Bernabé, DBV
Granadino, B
Chiarelli, I
Porfirio, B
Mayatepek, E
Aquaron, R
Moore, MM
Festen, JJM
Sanmartí, R
Peñalva, MA
de Córdoba, SR
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) : 776 - 784
[5] Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Felbor, U
Mutsch, Y
Grehn, F
Müller, CR
Kress, W
[J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 1999, 83 (06) : 680 - 683
[6] Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
Schmidt, SR
Gehrig, A
Koehler, MR
Schmid, M
Muller, CR
Kress, W
[J]. MAMMALIAN GENOME, 1997, 8 (03) : 168 - 171
[7] Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
S. R. Schmidt
A. Gehrig
M. R. Koehler
M. Schmid
C. R. Müller
W. Kress
[J]. Mammalian Genome, 1997, 8 : 168 - 171
[8] Haplotype and mutational analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients.
de Cordoba, SR
de Bernabe, DBV
Granadino, B
Estebanez, MC
Porfirio, B
Mayatepek, E
Aquaron, R
Pealva, MA
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A260 - A260
[9] A case report of two mutations of the homogentisate 1,2-dioxygenase gene in a Chinese Alkaptonuria
Ma, Min
Luo, Shulin
Wei, Yanhui
Lu, Liangyu
Cai, Junfeng
Yin, Feng
[J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2016, 9 (10): : 20372 - 20375
[10] Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria
Zatková, A
Poláková, H
Micutková, L
Zvarík, M
Bosák, V
Feráková, E
Matusek, J
Ferák, V
Kádasi, L
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (07) : 539 - 542

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